Article

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

2024-08-22

Abstract excerpt

More than 50% of families with suspected rare monogenic diseases remain unsolved after whole genome analysis by short read sequencing (SRS). Long-read sequencing (LRS) could help bridge this diagnostic gap by capturing variants inaccessible to SRS, facilitating long-range mapping and phasing, and providing haplotype-resolved methylation profiling. To evaluate LRS’s additional diagnostic yield, we sequenced a rare...

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Literature Corpus work: 52f0e5ba-ead8-5381-a49c-1af73287053c
DOI: 10.1101/2024.08.22.24312327

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